ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825331874
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529412
ClinVar RCV Id:
RCV000634831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019195.1:p.Pro86Arg
CA389793764
NM_001024024.2:c.257C>G